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Clinical and genetic features in autosomal recessive and X-linked Alport syndrome

โœ Scribed by Wang, Yanyan; Sivakumar, Vanessa; Mohammad, Mardhiah; Colville, Deb; Storey, Helen; Flinter, Frances; Dagher, Hayat; Savige, Judy


Book ID
121508918
Publisher
Springer
Year
2013
Tongue
English
Weight
136 KB
Volume
29
Category
Article
ISSN
0931-041X

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Three novel COL4A4 mutations resulting i
โœ Hayat Dagher; Yan Yan Wang; Rob Fassett; Judy Savige ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 152 KB

Autosomal recessive Alport syndrome is caused by mutations in the COL4A3 and COL4A4 genes which code for the alpha3 and alpha4 chains of type IV collagen. These mutations result in haematuria, progressive renal impairment and often hearing loss, lenticonus and retinopathy. We describe here the mutat